Article
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
American journal of human genetics - 1 Aug 1991
Delfau M H, Picat C, De Rooij F, Voortman G, Deybach J C, Nordmann Y, Grandchamp B
Abstract excerpt
Four mutations of the porphobilinogen (PBG) deaminase gene that result in cross-reacting immunological material (CRIM)-negative forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA from patients and by cloning of the amplified products in a bacterial expression vector. One mutation is a single base deletion which causes a frameshift and which is expected to result in...
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